The Genome Pioneers

Early adopters of personal genome sequencing gather to reflect on what we need to do to move the field forward.

April 30, 2010

Earlier this week, 14 “genome pioneers”–a select group that have had
their entire genomes sequenced–converged at the Microsoft conference
center in Cambridge, MA, to share their experiences as early genomics
adopters.
The conference was billed as the last chance to gather
everyone who has had their
genome sequenced in one room; experts predict that as many as 1000 human
genomes may be fully sequenced by the end of 2010. While Desmond Tutu
and Glenn Close didn’t show (both have had their genomes sequenced),
the others were gamely grilled onstage by Radiolabs Robert Krulwich. They shared
their thoughts on why they sequenced their genomes and how they are
using that
information. (For more on the latter, see “Finding
Meaning in Personal Genomes”.)

Here are some interesting tidbits from the conference.

Sequencing executives
really like to have their genomes sequenced. They made up four of
the 14
genome pioneers: Jay Flately, CEO of Illumina, Greg Lucier, CEO of Life
Technologies, Stephen Quake, founder of Helicos (not technically an
executive),
and John West, former CEO of Solexa, which was bought by Illumina.

Sequencing is
becoming a family affair. West has already had his wife and two kids
sequenced, and Lucier plans to do the same. Harvard Professor Henry Louis
Gates and
his father became the first African Americans and father-son pair to
have their
genomes sequenced, sharing the results in Gates’s PBS documentary “Faces of
America”.
Sequencing families does have its advantages like allowing scientists to
more
easily distinguish true genetic variations from sequencing errors. (For
a more medically oriented example of family
genome sequencing, check out “Hunting Disease
Origins with Whole-Genome Sequencing”.)

Insurance companies don’t want to see your genome.
Entrepreneur Ester Dyson, who is training with Russian cosmonauts for a
space flight, offered her genome sequence to the health insurance
company that was certifying her life insurance. They declined. Health
insurers are prohibited from discriminating against people based on
their genetic make-up, and Dyson says liability concerns may have played
a part. But Dyson points out that in the long run, health insurers
efforts to promote preventative medicine will be hindered without access
to patients’ genomes.

The genome pioneers are tired of
talking about privacy issues. Krulwich probed a number of the
participants about privacy concerns, such as whether a company would
want to reveal potential health risks of a high-level executive. John
West summed it up best: “Ester wants to be shot
into space on a Russian rocket and you ask her about the risk of having
her genome sequenced.”

Wives and mothers
seem to be more cautious about publicly releasing their genomes.
Seventeen
year old Anne West, who presented her analysis of her family’s genomes
at the
conference, said her mother Judy is keeping her genome secret in order
to
protect her children’s privacy. (They share half of their mom’s genome
and half of their dad’s–his
will be made public.) Both Flatley and Quake said their wives don’t want
to be
sequenced. When I mentioned that apparent trend to Quake, he quipped,
“they
generally are the more sensible ones.”

Personal genome
sequencing is still mostly the domain of white guys, at least outside
the
research arena. Of the 14 “genome pioneers” at the conference, three
were women
(including 17 year old Anne West.) One was Asian and one was African
American.
A number of African and Asian genomes have been sequenced, both
privately and for research, as well as a handful
of women,
some for their breast cancer genomes.

Analyzing the genome
is going to be much more difficult than sequencing it. That’s now a
familiar refrain among the genomics community, and both researchers and
startups are delving into this almost unknown territory. Quake recruited a
team of physicians and scientists at Stanford to analyze his genome.
(See Finding
Meaning in Personal Genomes.) And West said that his family was
shopping
around for a company to interpret their genomes, since their personal
efforts
have only sorted through a gene or two in several months.

Some of the most
interesting applications for genome sequencing lie beyond the human
genome. Virus
hunter Ian Lipkin described his efforts to use sequencing to track new
pathogens emerging across the globe. And biologist Rob Knight described
his efforts to catalog the
diversity of the microbes that inhabit our skin, mouths and guts. He
noted that
differences in the human microbiome–our microbial inhabitants–seem to
be much
larger and easier to detect than the subtle differences in individual
human genomes, and suggested targeting personalized
medicine efforts at microbes. I hope to expand on these two projects in
upcoming web stories, so stay tuned.

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